Variant report

Variant	rs73359562
Chromosome Location	chr21:40659869-40659870
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40659858..40663971-chr21:40719417..40722470,4	MCF-7	breast:
2	chr21:40651059..40652643-chr21:40657683..40660235,2	MCF-7	breast:
3	chr21:40657367..40661243-chr21:40682773..40686653,4	MCF-7	breast:
4	chr21:40658176..40660368-chr21:40662775..40665528,2	MCF-7	breast:
5	chr21:40657853..40663062-chr21:40682568..40687952,7	MCF-7	breast:
6	chr21:40658563..40660447-chr21:40754339..40756006,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185658	Chromatin interaction
ENSG00000238141	Chromatin interaction
ENSG00000205581	Chromatin interaction
ENSG00000255568	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs34332346	1.00[AMR][1000 genomes]
rs73357862	0.87[AFR][1000 genomes]
rs73357888	0.84[AFR][1000 genomes]
rs73357891	0.84[AFR][1000 genomes]
rs73359508	0.82[AFR][1000 genomes]
rs73359510	0.82[AFR][1000 genomes]
rs73359526	1.00[AMR][1000 genomes]
rs73359528	1.00[AMR][1000 genomes]
rs73359542	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73359547	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73359556	1.00[AMR][1000 genomes]
rs73359559	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73359573	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056683	chr21:40570023-40673210	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv459259	chr21:40571246-40701169	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv587480	chr21:40571246-40701169	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40563400-40660000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr21:40608400-40667200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:40619600-40660200	Weak transcription	Brain Angular Gyrus	brain
4	chr21:40630200-40661600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr21:40630200-40662800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr21:40631200-40663600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr21:40633200-40662800	Weak transcription	Esophagus	oesophagus
8	chr21:40638200-40665000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr21:40638600-40663400	Weak transcription	Gastric	stomach
10	chr21:40638600-40663400	Weak transcription	Psoas Muscle	Psoas
11	chr21:40638600-40665600	Weak transcription	Spleen	Spleen
12	chr21:40639000-40662600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr21:40639000-40663400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr21:40641000-40661400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr21:40641400-40683800	Strong transcription	Placenta	Placenta
16	chr21:40643000-40662800	Weak transcription	NHLF	lung
17	chr21:40643400-40662800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr21:40643400-40662800	Weak transcription	Brain Hippocampus Middle	brain
19	chr21:40643600-40663600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr21:40643800-40684200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr21:40646400-40662600	Weak transcription	Small Intestine	intestine
22	chr21:40646600-40662800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr21:40646600-40683400	Weak transcription	Fetal Brain Male	brain
24	chr21:40647400-40663600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr21:40650200-40663400	Weak transcription	Right Ventricle	heart
26	chr21:40650200-40671600	Weak transcription	Aorta	Aorta
27	chr21:40650600-40660800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr21:40650600-40662400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr21:40650800-40660000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr21:40651400-40662400	Weak transcription	Lung	lung
31	chr21:40651400-40671600	Weak transcription	Pancreas	Pancrea
32	chr21:40652400-40660000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr21:40653800-40662000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr21:40654600-40662400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr21:40654800-40662000	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr21:40655000-40669400	Strong transcription	NHDF-Ad	bronchial
37	chr21:40655000-40676800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr21:40655000-40683000	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr21:40655400-40683200	Strong transcription	Dnd41	blood
40	chr21:40655600-40671800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr21:40655800-40671800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr21:40655800-40672200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr21:40655800-40672800	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr21:40655800-40673800	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr21:40655800-40677400	Strong transcription	Duodenum Mucosa	Duodenum
46	chr21:40655800-40677400	Strong transcription	Fetal Thymus	thymus
47	chr21:40656000-40662000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr21:40656000-40669400	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr21:40656200-40661600	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr21:40656200-40662000	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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